short-rib thoracic dysplasia 22 without polydactyly
MONDO:0979242Mondo
Findings
No curated finding names short-rib thoracic dysplasia 22 without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- Patent foramen ovaleHPOHP:0001655
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 2 of 2 reported patients
- Pyloric stenosisHPOHP:0002021
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
- Respiratory tract infectionHPOHP:0011947
- 1 of 1 reported patient
- Short ribsHPOHP:0000773
- 3 of 3 reported patients
- Thoracic hypoplasiaHPOHP:0005257
- 2 of 2 reported patients
- 11 pairs of ribsHPOHP:0000878
- 2 of 3 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 2 of 3 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 1 of 2 reported patients
Show the remaining 4
- Lumbar scoliosisHPOHP:0004626
- 1 of 3 reported patients
- Narrow chestHPOHP:0000774
- 1 of 3 reported patients
- Thoracic dysplasiaHPOHP:0006644
- 1 of 3 reported patients
- Abnormal heart morphologyHPOHP:0001627
- 0 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: short-rib thoracic dysplasia 22 without polydactyly
- Also called
- thoracic dysostosis, isolated